Study

Gene Mutation and Rescue in Human Congenital Diaphragmatic Hernia (CDH)

Study ID Alternative Stable ID Type
phs000783 Cohort

Study Description

Congenital diaphragmatic hernia (CDH) is a common and severe birth defect. Despite the clinical significance of CDH, the underlying genetic and developmental pathways are incompletely understood. In order to establish a catalog of human genetic variation for this condition, a large whole exome sequencing study was performed on 275 carefully phenotyped individuals with CDH in the Pediatric Surgical Research Laboratories at the Massachusetts General Hospital (Boston, MA, USA). Using this dataset, we determined that variants in genes previously identified in either humans or mice with diaphragm defects are present in a large fraction of CDH patients. Rare pathogenic variants within these critical genes are specifically enriched in our CDH cohort compared to random size-matched gene sets. Further, gene lists derived from expression profiles of the developing diaphragm, from protein protein interaction networks expanded from the known CDH-causing genes, and from regions of recurrent copy number variations in CDH were used as filters in a gene discovery approach, allowing the ... (Show More)

Archive Link Archive Accession
dbGaP phs000783

Who archives the data?

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